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GENATLAS PHENOTYPE

last update : 27-02-2024

Symbol	GDDMP
Location	14q23.3
Name	global developmental delay, macrocephaly and polydactyly
Corresponding gene	MAX
Main clinical features	global developmental delay, ventriculomegaly with macrocephaly and with a prominent forehead, postaxial polydactyly also ophtalmic abnormalities (coloboma) and cardiac defects
Genetic determination	not applicable
Function/system disorder	cardiovascular
	neurology
	osteo-articular
	mental retardation
Type	disease

Remark(s)

. recurrent de novo heterozygous c.179G>A (p.Arg60Gln) variant in MAX , and this variant led to increased transcription and protein levels of CCND2 (PMID: 38141607))